Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4191
Gene name Gene Name - the full gene name approved by the HGNC.	Malate dehydrogenase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MDH2
Synonyms (NCBI Gene) Gene synonyms aliases	DEE51, EIEE51, M-MDH, MDH, MGC:3559, MOR1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE51
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373968974	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs375002796	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs782308462	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1057519566	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057519567	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all(54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046682	hsa-miR-222-3p	CLASH	23622248
MIRT046217	hsa-miR-27b-3p	CLASH	23622248
MIRT044824	hsa-miR-320a	CLASH	23622248
MIRT042426	hsa-miR-425-3p	CLASH	23622248
MIRT041647	hsa-miR-484	CLASH	23622248
MIRT041283	hsa-miR-193b-3p	CLASH	23622248
MIRT039952	hsa-miR-615-3p	CLASH	23622248
MIRT035981	hsa-miR-1301-3p	CLASH	23622248
MIRT041283	hsa-miR-193b-3p	PAR-CLIP	27292025
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT1138620	hsa-miR-2276	CLIP-seq
MIRT1138621	hsa-miR-3119	CLIP-seq
MIRT1138622	hsa-miR-3163	CLIP-seq
MIRT1138623	hsa-miR-4668-3p	CLIP-seq
MIRT1138624	hsa-miR-4686	CLIP-seq
MIRT1138625	hsa-miR-4772-3p	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT1138627	hsa-miR-891a	CLIP-seq
MIRT2039330	hsa-miR-101	CLIP-seq
MIRT2039331	hsa-miR-1272	CLIP-seq
MIRT2039332	hsa-miR-144	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2039333	hsa-miR-2964a-5p	CLIP-seq
MIRT2039334	hsa-miR-3202	CLIP-seq
MIRT2039335	hsa-miR-3682-3p	CLIP-seq
MIRT2039336	hsa-miR-3910	CLIP-seq
MIRT2039337	hsa-miR-4533	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2039330	hsa-miR-101	CLIP-seq
MIRT2039331	hsa-miR-1272	CLIP-seq
MIRT2039332	hsa-miR-144	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT1138620	hsa-miR-2276	CLIP-seq
MIRT2039333	hsa-miR-2964a-5p	CLIP-seq
MIRT2039334	hsa-miR-3202	CLIP-seq
MIRT2039335	hsa-miR-3682-3p	CLIP-seq
MIRT2039336	hsa-miR-3910	CLIP-seq
MIRT2039337	hsa-miR-4533	CLIP-seq
MIRT1138624	hsa-miR-4686	CLIP-seq
MIRT1138625	hsa-miR-4772-3p	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2269413	hsa-miR-520d-5p	CLIP-seq
MIRT2269414	hsa-miR-524-5p	CLIP-seq
MIRT2269415	hsa-miR-561	CLIP-seq
MIRT1138627	hsa-miR-891a	CLIP-seq
MIRT1138626	hsa-miR-4787-3p	CLIP-seq
MIRT2568593	hsa-miR-193b	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2568594	hsa-miR-4701-5p	CLIP-seq
MIRT2568595	hsa-miR-588	CLIP-seq
MIRT2568593	hsa-miR-193b	CLIP-seq
MIRT1138619	hsa-miR-205	CLIP-seq
MIRT2568594	hsa-miR-4701-5p	CLIP-seq
MIRT2568595	hsa-miR-588	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	16740313
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006099	Process	Tricarboxylic acid cycle	IBA	21873635
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006108	Process	Malate metabolic process	IDA	16740313
GO:0006108	Process	Malate metabolic process	IMP	6576816
GO:0006734	Process	NADH metabolic process	IEA
GO:0009060	Process	Aerobic respiration	IDA	27989324
GO:0016020	Component	Membrane	IEA
GO:0030060	Function	L-malate dehydrogenase activity	IBA	21873635
GO:0030060	Function	L-malate dehydrogenase activity	IDA	16740313, 27989324
GO:0030060	Function	L-malate dehydrogenase activity	IMP	6576816
GO:0043621	Function	Protein self-association	IEA
GO:0046554	Function	Malate dehydrogenase (NADP+) activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

MIM	HGNC	e!Ensembl
154100	6971	ENSG00000146701

Protein

UniProt ID

P40926

Protein name

Malate dehydrogenase, mitochondrial (EC 1.1.1.37)

PDB

2DFD , 4WLE , 4WLF , 4WLN , 4WLO , 4WLU , 4WLV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00056	Ldh_1_N	25 → 168	lactate/malate dehydrogenase, NAD binding domain	Family
PF02866	Ldh_1_C	170 → 334	lactate/malate dehydrogenase, alpha/beta C-terminal domain	Domain

Sequence

MLSALARPASAALRRSFSTSAQNNAKVAVLGASGGIGQPLSLLLKNSPLVSRLTLYDIAH
TPGVAADLSHIETKAAVKGYLGPEQLPDCLKGCDVVVIPAGVPRKPGMTRDDLFNTNATI
VATLTAACAQHCPEAMICVIANPVNSTIPITAEVFKKHGVYNPNKIFGVTTLDIVRANTF
VAELKGLDPARVNVPVIGGHAGKTIIPLISQCTPKVDFPQDQLTALTGRIQEAGTEVVKA
KAGAGSATLSMAYAGARFVFSLVDAMNGKEGVVECSFVKSQETECTYFSTPLLLGKKGIE
KNLGIGKVSSFEEKMISDAIPELKASIKKGEDFVKTLK

Sequence length

338

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism		Gluconeogenesis Citric acid cycle (TCA cycle)

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979 View all (159 more)
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	12376462
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	27989324
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	27989324
Glomerulonephritis	Glomerulonephritis	rs778043831
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hereditary pheochromocytoma-paraganglioma	Hereditary pheochromocytoma-paraganglioma	rs121908826, rs121908830, rs121908821, rs113560320, rs80338843, rs80338844, rs80338845, rs104894304, rs104894305, rs104894306, rs80338842, rs80338847, rs587776649, rs587776653, rs74315366 View all (132 more)
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)
Paraganglioma	Paraganglioma	rs113560320, rs104894303, rs80338843, rs587776644, rs80338844, rs80338845, rs104894302, rs587776645, rs104894304, rs104894305, rs587776646, rs104894306, rs387906358, rs121908983, rs80338842 View all (131 more)
Renal carcinoma	Renal Cell Carcinoma	rs121913668, rs121913670, rs121913243, rs786202724

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Congestive heart failure	Congestive heart failure	ClinVar
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma	GenCC

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	38017020
Alzheimer Disease	Associate	26059363
Brain Diseases	Associate	27989324
Chronic Pain	Associate	27832094
Cystic Fibrosis	Associate	35954202
Developmental Disabilities	Associate	37977948
Diabetes Mellitus	Associate	36187097
Drug Resistant Epilepsy	Associate	27989324
Epilepsy	Associate	36079864, 37977948
Exocrine Pancreatic Insufficiency	Associate	35954202
Glomerulosclerosis Focal Segmental	Associate	36159820
Metabolic Diseases	Associate	36159820
Microcephaly	Associate	37977948
Mitochondrial Diseases	Associate	11959456
Muscle Hypotonia	Associate	27989324
Muscular Dystrophies	Associate	24920607
Neoplasms	Associate	27989324, 34494499, 36760809
Neoplasms	Stimulate	34222480
Neuroendocrine Tumors	Associate	36301191
Neurologic Manifestations	Associate	36079864, 37977948
Parkinson Disease	Associate	36593912
Pheochromocytoma	Associate	27989324, 30008476
Polycystic Ovary Syndrome	Associate	34480296
Prostatic Neoplasms	Associate	23389923
Psychomotor Disorders	Associate	27989324
Uterine Neoplasms	Associate	25639359

MDH2 (malate dehydrogenase 2)